RGD:12740147 Rat Genome Database

Variant: RGD:12740147 - Homo sapiens

RGD ID:

12740147

RS ID:

rs145906668

ClinVar ID:

CV357352

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

F11 F11-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	187,209,668
GRCh38	4	186,288,514

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
LRG_583t1:c.1778C>T LRG_583:g.27551C>T NG_008051.1:g.27551C>T NC_000004.12:g.186288514C>T More...	10/25/2022	missense variant	pathogenic\|likely pathogenic	all ages	1-9 / 1 000 000	Congenital factor XI deficiency; none provided; Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome

Disease Annotations Click to see Annotation Detail View

factor XI deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	F11
Accession:	XM_047449814
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	503

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFF TYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSP TQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTV NYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDA CKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_047449816
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	471

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFF TYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSP TQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTV NYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQR ERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	NM_000128
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	593

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL CTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWP WQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYD IALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMIC AGYREGGKDACKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_005262821
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	594

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL CTNAVRCQFFTYTPAQASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEW PWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGY DIALLKLETTVNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMI CAGYREGGKDACKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_005262823
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	504

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKLCTNAVRCQFF TYTPAQASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTS PTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETT VNYTDSQRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKD ACKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_047449813
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	545

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQ ASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLC GGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDKI QNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVY TNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_047449812
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	561

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL CTNAVRCQFFTYTPAQASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWP WQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYD IALLKLETTVNYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGI MSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_047449811
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	577

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQ ASCNEGKGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLC GGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQ RPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSG GPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_047449817
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	455

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKC YLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWI LTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDKIQNTLQKAKIP LVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWI LEKTQAV*

Gene Symbol:	F11
Accession:	XM_005262822
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	562

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPVFCHSSFYHDTDFLGEELDIVAAKSHEACQKL CTNAVRCQFFTYTPAQASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEW PWQVTLHTTSPTQRHLCGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGY DIALLKLETTVNYTDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEVWHLVG IMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_006714137
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	578

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNICLLKHTQTGTPTRITKLDKVVSGFSLKSCALSNLACIRDIFPNTVFADSNIDSVMAPDAFVCGRICTHHPGCLFFT FFSQEWPKESQRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQ ASCNEGNRGKCYLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHL CGGSIIGNQWILTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDS QRPICLPSKGDRNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDS GGPLSCKHNEVWHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11
Accession:	XM_047449815
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	487

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIFLYQVVHFILFTSVSGECVTQLLKDTCFEGGDITTVFTPSAKYCQVVCTYHPRCLLFTFTAESPSEDPTRWFTCVLKD SVTETLPRVNRTAAISGYSFKQCSHQISACNKDIYVDLDMKGINYNSSVAKSAQECQERCTDDVHCHFFTYATRQFPSLE HRNLCLLKTSESGLPSTRIKKSKALSGFSLQSCRHSIPELDIVAAKSHEACQKLCTNAVRCQFFTYTPAQASCNEGKGKC YLKLSSNGSPTKILHGRGGISGYTLRLCKMDNECTTKIKPRIVGGTASVRGEWPWQVTLHTTSPTQRHLCGGSIIGNQWI LTAAHCFYGVESPKILRVYSGILNQSEIKEDTSFFGVQEIIIHDQYKMAESGYDIALLKLETTVNYTDSQRPICLPSKGD RNVIYTDCWVTGWGYRKLRDKIQNTLQKAKIPLVTNEECQKRYRGHKITHKMICAGYREGGKDACKGDSGGPLSCKHNEV WHLVGIMSWGEGCAQRERPGVYTNVVEYVDWILEKTQAV*

Gene Symbol:	F11-AS1
Accession:	NR_033900
Location:	EXON;NON-CODING

Gene Symbol:	F11
Accession:	XM_017007886
Location:	INTRON

Gene Symbol:	F11
Accession:	NM_001354804
Location:	INTRON

Gene Symbol:	F11
Accession:	XM_017007885
Location:	INTRON

Gene Symbol:	F11
Accession:	XM_017007884
Location:	INTRON

Gene Symbol:	F11-AS1
Accession:	NR_033901
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:14717969	PMID:15749683	PMID:17549289	PMID:25741868	PMID:27067486	PMID:28492532	PMID:31064749

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000411281	CLINVAR
	RCV001850956	CLINVAR
dbSNP (RS)	rs145906668	CLINVAR
MedGen	C0015523	CLINVAR
	C3661900	CLINVAR
NCBI Gene	F11	CLINVAR
	F11-AS1	CLINVAR
OMIM	264900	CLINVAR
	612416	CLINVAR
SNOMED CT	49762007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:12740147 - Homo sapiens

Imported Disease Annotations - ClinVar